Inheritance

Characteristics

Disease examples

Autosomal
Dominant

Male --> Male transmission, Males and

females equally affected, vertical
transmission, 50% chance of
transmission

Marfan's, Huntington's,
osteogenesis imperfecta,
Neurofibromas, polycistic
kidney disease, achondroplasia

Autosomal
Recessive

Vertical transmission is rare, increase

among consanguineous mating, males
and females equally affected, 1/4
affected with hetero parents

Metabolic disorders, Cistic

fibrosis (males infertile)
thalassaemias, Sickle cell

**Pseudodominant
Pedigree

Recessive phenotype, but expressed in

great ratios. Affected individuals can
only pass on an affected allele.
Pedigree appears dominant when
phenotype is actually recessive. (hh x
Hh has high chance of expressing
recessive traits)

O blood type (Europe), sickle

cell (Africa), CF (Quebec)

X-linked
recessive

Affected males in mult. generations,

Duchenne's muscular
few affected females if any, 50% risk to dystrophy, haemophilia,
carrier's (hetero) son, all affected
Menke's
male's daughters will be carriers,
NEVER male --> male transmission

X-linked
Dominant

NO male --> male transmission, 50%

offspring of affected mothers are
affected, ALL daughters of affected
males affected, affected males
expressed in greater severity due to
only 1 X chromosome (typically die),
many are male lethal

Mitochondrial
inheritance

Only transmits from mother, variable

penetrance (not all mitochondria are
affected), affected males DO NOT pass
on phenotype

LHON

Mosaic

Two different cell population,

SOMATIC mutation after fertilization,
germ-line mutations can be passed to
offspring, unaffected parents have
offspring with dominant phenotype;
risk: 25% for recessive, 50% for
dominant.

Skin patches, etc

Disease

Chromosomal Occurance/survival Characteristic

abnormality

Cause

Patau
Syndrome

Trisomy 13

1/5000
7 days

Significant physical
malformation,
cardiac, genitourinary and renal
defects, polydactyly,
cleft palate

Nondisjuction 50%
likely in meiosis I,
25% II

Edward's
Syndrome

Trisomy 18

1/3000,
50% 7d,
5-10% 1yr

Prominent occiput,
Nondisjuction 50%
short neck, tightly
likely in meiosis I,
clenched hands, renal 25% II
malformations,
rocker-bottom feet,
low set ears

Down's
Syndrome

Trisomy 21

1/700

IQ 25-50, heart
Nondisjunction,
disease, septal
Robertsonian 4%,
defects, >40yrs
mosaic 1%
develop similarities to
Alzheimer's

Turner's
Syndrome

45X

1/2500,
Mosaic survive
99% abort

Infertile, Short
stature <5', delayed
puberty, slightly
decreased IQ, puffy
feet, excess nuchal
skin, ovarian stroma
without germ cell
elements

Klinefelter

47XXY

1/500, likely
survival

Female secondary sex Paternal meiosis I,

characteristics ex
maternal I or II
gyno and pubic hair;
extremities
disproportionate
long; hypogonadism;
slightly decreased IQ

Tripple X

47XXX

1/1000,
Likely survival

Mild mental deficit

Maternal meiosis

47XYY

1/1000,
Likely survival

Mild mental deficit,

tall stature

Paternal meiosis II

Structural
Translocations .9% pregnancies
Chromosomal or inversions and newborns, 4abnormality
5% men w/low
sperm count

Often no effect unless

breakpoint involves a
gene; could affect
offspring due to

Partially mosaic in
living cases,

imbalance